OBO ID: DOID:0111724
Term Name: geleophysic dysplasia Search Ontology:
Synonyms:
  • geleophysic dwarfism
  • GPHYSD
Definition: A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. (3)
References:
  • GARD:2449
  • MEDDRA:10063361
  • OMIM:PS231050
  • ORDO:2623
  • SNOMEDCT_US_2023_03_01:28557005
  • UMLS_CUI:C3489726
Ontology: Human Disease   ( DOID:0111724 )
Relationships
is a type of:
has subtype:
OTHER geleophysic dysplasia PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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